rs1057516674, G6PC

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Glycogen storage disease type Ia
CUI: C2919796
Disease: Glycogen storage disease type Ia
45 0.882 0.160 17 42901026 frameshift variant GT/- del 0.700 1.000 1 2001 2001
Anemia
CUI: C0002871
Disease: Anemia
94 0.882 0.160 17 42901026 frameshift variant GT/- del 0.700 0
Eyelid Xanthoma
CUI: C0155210
Disease: Eyelid Xanthoma
32 0.882 0.160 17 42901026 frameshift variant GT/- del 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.882 0.160 17 42901026 frameshift variant GT/- del 0.700 0
Serum triglycerides increased
CUI: C0813230
Disease: Serum triglycerides increased
6 0.882 0.160 17 42901026 frameshift variant GT/- del 0.700 0